Trait
Absent speech development
Clinical name: Absent speech
Complete lack of development of speech and language abilities.
Summary
- Also called
- Lack of language development, Lack of speech, No speech development, No speech or language development, Nonverbal
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test482 genes linked to Absent speech development
Changes in these genes cause rare conditions in which Absent speech development is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Always | In 1 condition |
| ACTL6Bactin like 6B | Always | In 2 conditions |
| AFG2AAAA ATPase AFG2A | Always | In 2 conditions |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Always | In 1 condition |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Always | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Always | In 2 conditions |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 2 conditions |
| ARL13BARF like GTPase 13B | Always | In 1 condition |
| ASH1LASH1 like histone lysine methyltransferase | Always | In 1 condition |
| ATP6V0CATPase H+ transporting V0 subunit c | Always | In 1 condition |
| ATP9AATPase phospholipid transporting 9A | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Always | In 1 condition |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Always | In 1 condition |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Always | In 2 conditions |
| CASKcalcium/calmodulin dependent serine protein kinase | Always | In 2 conditions |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CCT3chaperonin containing TCP1 subunit 3 | Always | In 1 condition |
| CHKAcholine kinase alpha | Always | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Always | In 2 conditions |
| COG4component of oligomeric golgi complex 4 | Always | In 2 conditions |
| COG8component of oligomeric golgi complex 8 | Always | In 1 condition |
| COL4A2collagen type IV alpha 2 chain | Always | In 1 condition |
| CPLX1complexin 1 | Always | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Always | In 1 condition |
| DAG1dystroglycan 1 | Always | In 2 conditions |
| DALRD3DALR anticodon binding domain containing 3 | Always | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| DCAF17DDB1 and CUL4 associated factor 17 | Always | In 1 condition |
| DEAF1DEAF1 transcription factor | Always | In 2 conditions |
| DNM1dynamin 1 | Always | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Always | In 1 condition |
| DPH5diphthamide biosynthesis 5 | Always | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Always | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Always | In 2 conditions |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| ELP2elongator acetyltransferase complex subunit 2 | Always | In 1 condition |
Show 442 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ERLIN2ER lipid raft associated 2 | Always | In 3 conditions |
| FKRPfukutin related protein | Always | In 1 condition |
| FKTNfukutin | Always | In 1 condition |
| FOXG1forkhead box G1 | Always | In 2 conditions |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Always | In 1 condition |
| FRRS1Lferric chelate reductase 1 like | Always | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Always | In 2 conditions |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Always | In 1 condition |
| GATMglycine amidinotransferase | Always | In 1 condition |
| GET4guided entry of tail-anchored proteins factor 4 | Always | In 1 condition |
| GNAO1G protein subunit alpha o1 | Always | In 2 conditions |
| GPT2glutamic--pyruvic transaminase 2 | Always | In 1 condition |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Always | In 2 conditions |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Always | In 2 conditions |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Always | In 1 condition |
| GRM1glutamate metabotropic receptor 1 | Always | In 2 conditions |
| GSX2GS homeobox 2 | Always | In 1 condition |
| H4C11H4 clustered histone 11 | Always | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Always | In 1 condition |
| HID1HID1 domain containing | Always | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IKZF2IKAROS family zinc finger 2 | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| INTS1integrator complex subunit 1 | Always | In 1 condition |
| INTS8integrator complex subunit 8 | Always | In 1 condition |
| IREB2iron responsive element binding protein 2 | Always | In 1 condition |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Always | In 1 condition |
| ISCA2iron-sulfur cluster assembly 2 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Always | In 1 condition |
| KCNK3potassium two pore domain channel subfamily K member 3 | Always | In 1 condition |
| KCTD7potassium channel tetramerization domain containing 7 | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KIF5Ckinesin family member 5C | Always | In 1 condition |
| KLHL15kelch like family member 15 | Always | In 1 condition |
| KLHL20kelch like family member 20 | Always | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Always | In 1 condition |
| LINS1lines homolog 1 | Always | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Always | In 1 condition |
| MAB21L1mab-21 like 1 | Always | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Always | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Always | In 1 condition |
| MDH2malate dehydrogenase 2 | Always | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Always | In 3 conditions |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| MED23mediator complex subunit 23 | Always | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Always | In 1 condition |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Always | In 1 condition |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MRPL12mitochondrial ribosomal protein L12 | Always | In 1 condition |
| NALCNsodium leak channel, non-selective | Always | In 1 condition |
| NCAPD2non-SMC condensin I complex subunit D2 | Always | In 1 condition |
| NEXMIFneurite extension and migration factor | Always | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 1 condition |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Always | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Always | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Always | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Always | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Always | In 1 condition |
| PLAAphospholipase A2 activating protein | Always | In 1 condition |
| PMPCBpeptidase, mitochondrial processing subunit beta | Always | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Always | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Always | In 1 condition |
| POT1protection of telomeres 1 | Always | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Always | In 2 conditions |
| PSMB1proteasome 20S subunit beta 1 | Always | In 1 condition |
| PSMC1proteasome 26S subunit, ATPase 1 | Always | In 1 condition |
| PURApurine rich element binding protein A | Always | In 1 condition |
| RAB11BRAB11B, member RAS oncogene family | Always | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 1 condition |
| RAB5IFRAB5 interacting factor | Always | In 1 condition |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| SATB1SATB homeobox 1 | Always | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 2 conditions |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Always | In 1 condition |
| SIK1salt inducible kinase 1 | Always | In 1 condition |
| SLC12A2solute carrier family 12 member 2 | Always | In 2 conditions |
| SLC13A5solute carrier family 13 member 5 | Always | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Always | In 1 condition |
| SLC25A12solute carrier family 25 member 12 | Always | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Always | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Always | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Always | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Always | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 2 conditions |
| SOD1superoxide dismutase 1 | Always | In 1 condition |
| SPTBN4spectrin beta, non-erythrocytic 4 | Always | In 1 condition |
| STILSTIL centriolar assembly protein | Always | In 5 conditions |
| SUOXsulfite oxidase | Always | In 1 condition |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Always | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Always | In 1 condition |
| TFE3transcription factor binding to IGHM enhancer 3 | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TMEM231transmembrane protein 231 | Always | In 1 condition |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Always | In 1 condition |
| TREX1three prime repair exonuclease 1 | Always | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Always | In 3 conditions |
| UBE3Bubiquitin protein ligase E3B | Always | In 1 condition |
| UBTFupstream binding transcription factor | Always | In 2 conditions |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| UGP2UDP-glucose pyrophosphorylase 2 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 2 conditions |
| UNC80unc-80 subunit of NALCN channel complex | Always | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Always | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Always | In 2 conditions |
| WARS1tryptophanyl-tRNA synthetase 1 | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 3 conditions |
| WDR37WD repeat domain 37 | Always | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Always | In 1 condition |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 1 condition |
| ASPAaspartoacylase | Very often (80–99%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Very often (80–99%) | In 1 condition |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CUL4Bcullin 4B | Very often (80–99%) | In 2 conditions |
| DHX30DExH-box helicase 30 | Very often (80–99%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Very often (80–99%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Very often (80–99%) | In 2 conditions |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| KDM5Alysine demethylase 5A | Very often (80–99%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| MAST1microtubule associated serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Very often (80–99%) | In 2 conditions |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Very often (80–99%) | In 1 condition |
| PPIL1peptidylprolyl isomerase like 1 | Very often (80–99%) | In 1 condition |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Very often (80–99%) | In 2 conditions |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Very often (80–99%) | In 2 conditions |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 1 condition |
| SATB2SATB homeobox 2 | Very often (80–99%) | In 2 conditions |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Very often (80–99%) | In 1 condition |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 2 conditions |
| SYT1synaptotagmin 1 | Very often (80–99%) | In 2 conditions |
| TCF4transcription factor 4 | Very often (80–99%) | In 2 conditions |
| TRIM8tripartite motif containing 8 | Very often (80–99%) | In 1 condition |
| TUBA8tubulin alpha 8 | Very often (80–99%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Very often (80–99%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Very often (80–99%) | In 3 conditions |
| ZSWIM6zinc finger SWIM-type containing 6 | Very often (80–99%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Often (30–79%) | In 1 condition |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Often (30–79%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Often (30–79%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Often (30–79%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Often (30–79%) | In 2 conditions |
| ATN1atrophin 1 | Often (30–79%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Often (30–79%) | In 1 condition |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Often (30–79%) | In 1 condition |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Often (30–79%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Often (30–79%) | In 4 conditions |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Often (30–79%) | In 1 condition |
| CLIC2CLIC family member 2 | Often (30–79%) | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Often (30–79%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Often (30–79%) | In 1 condition |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Often (30–79%) | In 1 condition |
| COG3component of oligomeric golgi complex 3 | Often (30–79%) | In 1 condition |
| COPB1coat protein complex I subunit beta 1 | Often (30–79%) | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Often (30–79%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Often (30–79%) | In 4 conditions |
| CTNNA2catenin alpha 2 | Often (30–79%) | In 1 condition |
| DCPSdecapping enzyme, scavenger | Often (30–79%) | In 1 condition |
| DEGS1delta 4-desaturase, sphingolipid 1 | Often (30–79%) | In 1 condition |
| DENND5ADENN domain containing 5A | Often (30–79%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Often (30–79%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 4 conditions |
| DNM1Ldynamin 1L | Often (30–79%) | In 1 condition |
| DOCK3dedicator of cytokinesis 3 | Often (30–79%) | In 1 condition |
| DOCK7dedicator of cytokinesis 7 | Often (30–79%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Often (30–79%) | In 1 condition |
| DYMdymeclin | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 2 conditions |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Often (30–79%) | In 1 condition |
| EXOSC5exosome component 5 | Often (30–79%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Often (30–79%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Often (30–79%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Often (30–79%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
| FOXH1forkhead box H1 | Often (30–79%) | In 4 conditions |
| FRA10AC1FRA10A associated CGG repeat 1 | Often (30–79%) | In 1 condition |
| FRMD4AFERM domain containing 4A | Often (30–79%) | In 2 conditions |
| FRMPD4FERM and PDZ domain containing 4 | Often (30–79%) | In 1 condition |
| GAMTguanidinoacetate N-methyltransferase | Often (30–79%) | In 1 condition |
| GAS1growth arrest specific 1 | Often (30–79%) | In 4 conditions |
| GCDHglutaryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| GEMIN4gem nuclear organelle associated protein 4 | Often (30–79%) | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 4 conditions |
| GNAI1G protein subunit alpha i1 | Often (30–79%) | In 1 condition |
| GNB5G protein subunit beta 5 | Often (30–79%) | In 2 conditions |
| GOT2glutamic-oxaloacetic transaminase 2 | Often (30–79%) | In 1 condition |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Often (30–79%) | In 1 condition |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Often (30–79%) | In 1 condition |
| HDAC4histone deacetylase 4 | Often (30–79%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Often (30–79%) | In 2 conditions |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 1 condition |
| IARS1isoleucyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Often (30–79%) | In 1 condition |
| KICS2KICSTOR subunit 2 | Often (30–79%) | In 1 condition |
| KIF15kinesin family member 15 | Often (30–79%) | In 1 condition |
| LINGO1leucine rich repeat and Ig domain containing 1 | Often (30–79%) | In 1 condition |
| LNPKlunapark, ER junction formation factor | Often (30–79%) | In 1 condition |
| MACF1microtubule actin crosslinking factor 1 | Often (30–79%) | In 1 condition |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| MED25mediator complex subunit 25 | Often (30–79%) | In 1 condition |
| MFFmitochondrial fission factor | Often (30–79%) | In 1 condition |
| MRPS34mitochondrial ribosomal protein S34 | Often (30–79%) | In 1 condition |
| MSL3MSL complex subunit 3 | Often (30–79%) | In 1 condition |
| NAV3neuron navigator 3 | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| NGLY1N-glycanase 1 | Often (30–79%) | In 1 condition |
| NODALnodal growth differentiation factor | Often (30–79%) | In 4 conditions |
| NSRP1nuclear speckle splicing regulatory protein 1 | Often (30–79%) | In 1 condition |
| NTNG2netrin G2 | Often (30–79%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Often (30–79%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Often (30–79%) | In 1 condition |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Often (30–79%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| PLK4polo like kinase 4 | Often (30–79%) | In 1 condition |
| PLP1proteolipid protein 1 | Often (30–79%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| POLR3KRNA polymerase III subunit K | Often (30–79%) | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Often (30–79%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Often (30–79%) | In 2 conditions |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 4 conditions |
| RAC1Rac family small GTPase 1 | Often (30–79%) | In 2 conditions |
| RALARAS like proto-oncogene A | Often (30–79%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Often (30–79%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 1 condition |
| SETBP1SET binding protein 1 | Often (30–79%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 4 conditions |
| SIX3SIX homeobox 3 | Often (30–79%) | In 4 conditions |
| SLC12A6solute carrier family 12 member 6 | Often (30–79%) | In 1 condition |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Often (30–79%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Often (30–79%) | In 1 condition |
| SLC6A11solute carrier family 6 member 11 | Often (30–79%) | In 1 condition |
| SLC6A17solute carrier family 6 member 17 | Often (30–79%) | In 1 condition |
| SLC6A3solute carrier family 6 member 3 | Often (30–79%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Often (30–79%) | In 2 conditions |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Often (30–79%) | In 2 conditions |
| SNX14sorting nexin 14 | Often (30–79%) | In 2 conditions |
| SPTSSAserine palmitoyltransferase small subunit A | Often (30–79%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Often (30–79%) | In 2 conditions |
| STXBP1syntaxin binding protein 1 | Often (30–79%) | In 2 conditions |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Often (30–79%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Often (30–79%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TBCDtubulin folding cofactor D | Often (30–79%) | In 2 conditions |
| TBCEtubulin folding cofactor E | Often (30–79%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Often (30–79%) | In 1 condition |
| TELO2telomere maintenance 2 | Often (30–79%) | In 2 conditions |
| TGIF1TGFB induced factor homeobox 1 | Often (30–79%) | In 4 conditions |
| TKTtransketolase | Often (30–79%) | In 2 conditions |
| TMEM147transmembrane protein 147 | Often (30–79%) | In 1 condition |
| TOR1Atorsin family 1 member A | Often (30–79%) | In 1 condition |
| TRAPPC10trafficking protein particle complex subunit 10 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 1 condition |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Often (30–79%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Often (30–79%) | In 1 condition |
| TTC5tetratricopeptide repeat domain 5 | Often (30–79%) | In 1 condition |
| TUBB2Atubulin beta 2A class IIa | Often (30–79%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Often (30–79%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Often (30–79%) | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Often (30–79%) | In 2 conditions |
| VPS41VPS41 subunit of HOPS complex | Often (30–79%) | In 1 condition |
| VPS4Avacuolar protein sorting 4 homolog A | Often (30–79%) | In 1 condition |
| WBP4WW domain binding protein 4 | Often (30–79%) | In 1 condition |
| WDR45WD repeat domain 45 | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 4 conditions |
| ACBD6acyl-CoA binding domain containing 6 | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Sometimes (5–29%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Sometimes (5–29%) | In 1 condition |
| ATG7autophagy related 7 | Sometimes (5–29%) | In 1 condition |
| ATP10AATPase phospholipid transporting 10A (putative) | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| BCAS3BCAS3 microtubule associated cell migration factor | Sometimes (5–29%) | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 2 conditions |
| CRBNcereblon | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| CSNK2A1casein kinase 2 alpha 1 | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| DPF2double PHD fingers 2 | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| FTH1ferritin heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| HIKESHIheat shock protein nuclear import factor hikeshi | Sometimes (5–29%) | In 1 condition |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Sometimes (5–29%) | In 1 condition |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Sometimes (5–29%) | In 1 condition |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Sometimes (5–29%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIF1Akinesin family member 1A | Sometimes (5–29%) | In 1 condition |
| KMT5Blysine methyltransferase 5B | Sometimes (5–29%) | In 1 condition |
| LAS1LLAS1 like ribosome biogenesis factor | Sometimes (5–29%) | In 1 condition |
| LMAN2Llectin, mannose binding 2 like | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Sometimes (5–29%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| OPHN1oligophrenin 1 | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 2 conditions |
| PCGF2polycomb group ring finger 2 | Sometimes (5–29%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sometimes (5–29%) | In 2 conditions |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| POGZpogo transposable element derived with ZNF domain | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sometimes (5–29%) | In 1 condition |
| PUS3pseudouridine synthase 3 | Sometimes (5–29%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| SERAC1serine active site containing 1 | Sometimes (5–29%) | In 2 conditions |
| SHROOM4shroom family member 4 | Sometimes (5–29%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Sometimes (5–29%) | In 1 condition |
| SLITRK2SLIT and NTRK like family member 2 | Sometimes (5–29%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sometimes (5–29%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sometimes (5–29%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sometimes (5–29%) | In 2 conditions |
| SMSspermine synthase | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 2 conditions |
| SOX11SRY-box transcription factor 11 | Sometimes (5–29%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 1 condition |
| SRPK3SRSF protein kinase 3 | Sometimes (5–29%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Sometimes (5–29%) | In 2 conditions |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Sometimes (5–29%) | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Sometimes (5–29%) | In 2 conditions |
| TMCO1transmembrane and coiled-coil domains 1 | Sometimes (5–29%) | In 1 condition |
| TMEM106Btransmembrane protein 106B | Sometimes (5–29%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sometimes (5–29%) | In 1 condition |
| TNPO2transportin 2 | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Sometimes (5–29%) | In 2 conditions |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| WDR26WD repeat domain 26 | Sometimes (5–29%) | In 2 conditions |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| YME1L1YME1 like 1 ATPase | Sometimes (5–29%) | In 1 condition |
| YY1YY1 transcription factor | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Rarely (1–4%) | In 1 condition |
| ACOX1acyl-CoA oxidase 1 | Not recorded | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Not recorded | In 1 condition |
| BCL11BBCL11 transcription factor B | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| BRAT1BRCA1 associated ATM activator 1 | Not recorded | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Not recorded | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Not recorded | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Not recorded | In 1 condition |
| CCND2cyclin D2 | Not recorded | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Not recorded | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Not recorded | In 1 condition |
| EXOSC3exosome component 3 | Not recorded | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Not recorded | In 1 condition |
| GNSglucosamine (N-acetyl)-6-sulfatase | Not recorded | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Not recorded | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Not recorded | In 1 condition |
| HTThuntingtin | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Not recorded | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Not recorded | In 1 condition |
| MAGEL2MAGE family member L2 | Not recorded | In 1 condition |
| MPDU1mannose-P-dolichol utilization defect 1 | Not recorded | In 1 condition |
| NACC1nucleus accumbens associated 1 | Not recorded | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Not recorded | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Not recorded | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Not recorded | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Not recorded | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Not recorded | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Not recorded | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Not recorded | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Not recorded | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Not recorded | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Not recorded | In 1 condition |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Not recorded | In 1 condition |
| TCTN2tectonic family member 2 | Not recorded | In 1 condition |
| TOE1target of EGR1, exonuclease | Not recorded | In 1 condition |
| TRIT1tRNA isopentenyltransferase 1 | Not recorded | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Not recorded | In 1 condition |
| UFM1ubiquitin fold modifier 1 | Not recorded | In 1 condition |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Not recorded | In 1 condition |
| USP27Xubiquitin specific peptidase 27 X-linked | Not recorded | In 1 condition |
| WDR45BWD repeat domain 45B | Not recorded | In 1 condition |
| ZBTB18zinc finger and BTB domain containing 18 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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